Canonical Allele Identifier: CA398984083

Gene: NF1

Linked Data

• dbSNP Id: rs1227092939
• MyVariant Identifiers: chr17:g.29556129C>G (hg19) ; chr17:g.31229111C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229111C>G , CM000679.2:g.31229111C>G	GRCh38
NC_000017.10:g.29556129C>G , CM000679.1:g.29556129C>G	GRCh37
NC_000017.9:g.26580255C>G	NCBI36
NG_009018.1:g.139135C>G , LRG_214:g.139135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2541C>G	ENSP00000512431.1:p.Asp847Glu
ENST00000691014.1:c.2526C>G	ENSP00000510595.1:p.Asp842Glu
ENST00000358273.9:c.2496C>G MANE Select	ENSP00000351015.4:p.Asp832Glu
ENST00000356175.7:c.2496C>G	ENSP00000348498.3:p.Asp832Glu
ENST00000358273.8:c.2496C>G	ENSP00000351015.4:p.Asp832Glu
ENST00000456735.6:c.1494C>G	ENSP00000389907.2:p.Asp498Glu
ENST00000493220.5:n.663C>G
ENST00000495910.6:c.2271C>G
ENST00000579081.5:c.2598C>G	ENSP00000462408.1:p.Asp866Glu
NM_000267.3:c.2496C>G , LRG_214t1:c.2496C>G	NP_000258.1:p.Asp832Glu
NM_001042492.2:c.2496C>G , LRG_214t2:c.2496C>G	NP_001035957.1:p.Asp832Glu
XM_005257983.1:c.2496C>G	XP_005258040.1:p.Asp832Glu
XM_005257984.1:c.2496C>G	XP_005258041.1:p.Asp832Glu
XM_006721922.1:c.2526C>G	XP_006721985.1:p.Asp842Glu
XM_006721923.2:c.2487C>G	XP_006721986.1:p.Asp829Glu
XM_006721924.1:c.2526C>G	XP_006721987.1:p.Asp842Glu
XM_006721925.1:c.2526C>G	XP_006721988.1:p.Asp842Glu
XM_006721926.2:c.2526C>G	XP_006721989.1:p.Asp842Glu
XM_006721927.1:c.2526C>G	XP_006721990.1:p.Asp842Glu
XM_006721928.2:c.2526C>G	XP_006721991.1:p.Asp842Glu
XM_011524852.1:c.2523C>G	XP_011523154.1:p.Asp841Glu
XM_011524853.1:c.2487C>G	XP_011523155.1:p.Asp829Glu
XM_011524854.1:c.2487C>G	XP_011523156.1:p.Asp829Glu
XM_011524855.1:c.2487C>G	XP_011523157.1:p.Asp829Glu
XM_011524856.1:c.2487C>G	XP_011523158.1:p.Asp829Glu
XM_011524857.1:c.2526C>G	XP_011523159.1:p.Asp842Glu
NM_001042492.3:c.2496C>G MANE Select	NP_001035957.1:p.Asp832Glu